A globally diverse reference alignment and panel for imputation of mitochondrial DNA variants

A globally diverse reference alignment and panel for imputation of mitochondrial DNA variants

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Background: Variation in mitochondrial DNA (mtDNA) identified by genotyping microarrays or by sequencing only the hypervariable regions of the genome may be insufficient to reliably assign mitochondrial genomes to phylogenetic lineages or haplogroups. This lack of resolution can limit functional and...

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Bibliographic Details
Main Authors: Andrews, S.J (Author), Easteal, S. (Author), for the Alzheimer's Disease Neuroimaging Initiative (Author), Fulton-Howard, B. (Author), Goate, A. (Author), Jermiin, L.S (Author), McInerney, T.W (Author), Pa, J. (Author), Paliwal, D. (Author), Patel, H.R (Author), Patterson, C. (Author), Swerdlow, R.H (Author)
Format: Article
Language:English
Published: BioMed Central Ltd 2021
Subjects:
Alignment
Clinical investigation
Correlation coefficient
DNA
DNA, Mitochondrial
Gene encoding
gene frequency
Gene Frequency
genetics
Genome, Human
genome-wide association study
Genome-Wide Association Study
genotype
Genotype
human
human genome
Humans
Imputation
Mitochondria
mitochondrial DNA
Mitochondrial DNA
Mitochondrial DNA (mtDNA)
Mitochondrial genomes
mtDNA sequence
Neuroimaging
Nucleotides
Phylogenetic lineages
phylogeny
Phylogeny
Pipelines
Polymorphism, Single Nucleotide
Quality control
Reference panel
single nucleotide polymorphism
Single nucleotides
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